219700.71

Country

Lebanon

HPO Terms

Elevated sweat chloride
Back to search Result
Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.2657+5G>A12.5

Remarks

Compound heterozygous CF patient from family '7' in the publication
© CAGS 2024. All rights reserved.